ClinVar

NM_019616.4(F7):c.1145G>A (p.Ser382Asn)

Gene:

F7:coagulation factor VII [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q34

Genomic location:

• Chr13: 113118818 (on Assembly GRCh38)
• Chr13: 113773132 (on Assembly GRCh37)

Preferred name:

NM_019616.4(F7):c.1145G>A (p.Ser382Asn)

HGVS:

• NC_000013.11:g.113118818G>A
• NG_009258.1:g.1020G>A
• NG_009262.1:g.18028G>A
• NM_000131.4:c.1211G>A
• NM_001267554.2:c.959G>A
• NM_019616.4:c.1145G>AMANE SELECT
• NP_000122.1:p.Ser404Asn
• NP_001254483.1:p.Ser320Asn
• NP_062562.1:p.Ser382Asn
• NP_062562.1:p.Ser382Asn
• LRG_554t1:c.1211G>A
• LRG_554t2:c.1145G>A
• LRG_548:g.1020G>A
• LRG_554:g.18028G>A
• LRG_554p1:p.Ser404Asn
• LRG_554p2:p.Ser382Asn
• NC_000013.10:g.113773132G>A
• NM_019616.3:c.1145G>A
• NR_051961.2:n.1229G>A

This HGVS expression did not pass validation

Protein change:

S320N

Molecular consequence:

• NM_000131.4:c.1211G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267554.2:c.959G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_019616.4:c.1145G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_051961.2:n.1229G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]